What does TNXB do?
Normal Function. The TNXB gene provides instructions for making a protein called tenascin-X. This protein plays an important role in organizing and maintaining the structure of tissues that support the body’s muscles, joints, organs, and skin (connective tissues).
What chromosome is TNXB on?
chromosome 6
The TNXB gene (sometimes known by other names such as HXBL, TNX, TENX, XB) belongs to a family of genes called fibronectin type III domain containing and localizes to the major histocompatibility complex (MHC) class III region on chromosome 6, at cytogenetic location 6p21.
How many exons are in TNXB?
The TNXB mutation data have been added to a new database.
| General information | |
|---|---|
| Transcript refseq ID | NM_019105.6 |
| Exon/intron information | Exon/intron information table |
| Total number of unique DNA variants reported | 41 |
| Total number of individuals with variant(s) | 50 |
What is TNX deficiency?
In short, patients with the TNX-deficient type EDS typically have generalized joint hypermobility, skin hyperextensibility and easy bruising. In contrast to the classical type, the inheritance pattern is autosomal recessive and atrophic scarring is absent.
What is a cigarette paper scar?
People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic “cigarette paper” scars .
Is EDS hereditary?
EDS can be inherited, but in some cases it occurs by chance in someone without a family history of the condition.
Are you born with Ehlers-Danlos syndrome?
EDS is something you are born with but symptoms may not manifest themselves until later in life. It is not uncommon for a genetic condition to first become apparent during puberty, alternatively symptoms can be triggered by a trauma, such as a virus, many years down the line.
Can you have EDS with no family history?
What does EDS pain feel like?
I was asked recently to describe what my body feels with EDS. I described the feeling of being tenderized with a mallet all over my body. Not enough to break bones, but hard enough to leave bruises. This is my daily experience even with the aid of pain meds.
Does Ehlers-Danlos affect the brain?
Because EDS is a connective-tissue disorder, it is not commonly associated with the brain or the nervous system. However, there is evidence that some types of EDS can affect the brain. Studies have suggested that patients with EDS might be susceptible to damage to brain cells after even a mild traumatic head injury.
Is Ehlers-Danlos inherited from mother or father?
For a child to be affected both parents must pass on an EDS gene. With each pregnancy there is a 25% chance that each child will have the disorder.
What do people with Ehlers-Danlos look like?
People who have vascular Ehlers-Danlos syndrome often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. They also have thin, translucent skin that bruises very easily. In fair-skinned people, the underlying blood vessels are very visible through the skin.
What triggers EDS flare ups?
Movement, Exercise, or Life Inputs: Not being prepared for the task at hand can create a pain flare cycle. Whether it is a much longer walk than your usual, standing or sitting for many hours without movement breaks, or exercises that exceed your current capacity, all of these can contribute to a flare.
How do they test for Ehlers-Danlos?
How do doctors diagnose Ehlers-Danlos syndrome?
- Genetic testing: The most common way to identify the condition is to look for a faulty gene.
- Biopsy: In some cases, a doctor will use a test called a biopsy.
- Physical exam: During a physical exam, doctors can see how much the skin stretches and how far the joints can move.
Is EDS a form of autism?
Recent research suggests that EDS may share strong links with autism. Case studies have previously been published identifying individuals who are both on the autism spectrum and have a diagnosis of EDS.
What triggers EDS?
The different types of EDS are caused by faults in certain genes that make connective tissue weaker. Depending on the type of EDS, the faulty gene may have been inherited from 1 parent or both parents. Sometimes the faulty gene is not inherited, but occurs in the person for the first time.
What is the life expectancy of someone with Ehlers-Danlos syndrome?
Patients with the classical and hypermobility forms of Ehlers-Danlos syndrome have a normal life expectancy. About 80% of patients with vascular Ehlers-Danlos syndrome will experience a major health event by age 40 and the life expectancy is shortened, with an average age of death of 48 years.
How long do people with EDS live?
The median life expectancy for individuals with vascular EDS is around 48 years. Patients with kyphoscoliotic EDS — whose hallmark is a sideways curvature of the spine in combination with a hunched back — also may have a reduced life expectancy.
Can a blood test detect Ehlers-Danlos?
Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome are often enough to make a diagnosis. Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help rule out other problems.
Can you have Ehlers-Danlos and not know it?
Milder forms of EDS are often not diagnosed until early adulthood, as it can take some time before the symptoms and signs become noticeable. The more severe types, however, are diagnosed mainly in childhood. Some types have been seen so few times that it is hard to generalise about what symptoms are normal for them.
Is EDS linked to ADHD?
They found that 4.3% of all EDS patients had an ADHD diagnosis, compared to 0.8% in the control group. Siblings of those with EDS also had an increased incidence of ADHD compared to siblings in the control group. In those persons with hypermobility syndrome, 3.0% had ADHD compared to 0.5% in the control group.
What is the life expectancy of someone with EDS?
It is often associated with a shortened lifespan. Among affected people diagnosed as the result of a complication, 25% have experienced a significant medical complication by age 20 and more than 80% by age 40. The median life expectancy for people affected by vascular EDS is 48 years.”
Does Ehlers-Danlos get worse with age?
Many of the problems associated with EDS are progressive, meaning that they get worse over time. Kyphoscoliosis EDS (kyphosis and scoliosis) is a form of Ehlers-Danlos Syndrome that is noted for severe, progressive curvature of the spine. It worsens over time and may affect breathing by restricting lung expansion.
What is Ehlers-Danlos syndrome caused by?
Is Ehlers-Danlos a serious illness?
Vascular Ehlers-Danlos syndrome can weaken your heart’s largest artery (aorta), as well as the arteries to other regions of your body. A rupture of any of these larger blood vessels can be fatal. The vascular type can also weaken the walls of the uterus or large intestines — which also may rupture.